LOVD3

Which countries actively share data on genes, variants and phenotypes?

The LOVD database recently released a new service. Interested in what your country shares? Try the international country code in front of ".LOVD.org" and check, e.g. nl.LOVD.org for Netherlands and au.LOVD.orgfor Australia. Then check "Variants in Individuals from xx", i.e. variants linked to an individual from a specific country. Or "Variants by Submitters from xx", i.e. data submitted by somebody from a specific country. The data retrieved are from the LOVD3 shared database. Is your country already sharing? If not, want to make a change? What's stopping you? Register and start, it's that simple!

Meeting Report: The 14th International Symposium on Variants in the GenomeNH Collection Santiago de CompostelaJune 5 - 7 2017

The 14th International Symposium on Variants in the Genome took place in Santiago de Compostela, a UNESCO world heritage city, from 5-8 June 2017, with participation of 170 delegates from 32 countries. The meeting addressed recent advances on the genome and genetic variation, such as genome structure and function, country-wide genome projects, transcript and splicing analysis, novel sequencing methods, informatics pipelines, and data sharing networks. Research, as well as diagnostic applications were discussed in depth. Special sessions were dedicated to pharmacogenomics and drug discovery – with presentation of the Innopharma drug-screening platform – and to the BRCA Challenge, chaired by Prof. Sir John Burn. Distinguished invited speakers included P Donnelly (meiosis), J Dopazo (computational tools), I Gut (genome sequencing), P Robinson (phenotype ontologies), J Surrallés (Fanconi anemia), G Ratsch (BRCA exchange), S Aradhya (Claire Turnbull (Genomics England), W Parson and C Phillips (forensic genetics). Two workshops were focused, respectively, on variant nomenclature and clinical interpretation. Commercially-sponsored presentations and workshops also provided opportunities to discuss practical questions. Over 30 studies were presented as poster or platform communications. We thank all our sponsors for helping to make this event possible and look forward to the next meeting in 2019.

In a session co-chaired by ISAC member, Marc Greenblatt entitled Human Genome Variation and the role of InSiGHT, a range HVP activities were presented at the recent InSiGHT meeting in Florence:Sir John Burn, Chair of HVP’s Board outlined the progress of HVP’s collaborative project undertaken with GA4HG – the BRCA Challenge; this initiative involves many HVP members and was presented as an example of how collaborative networks of multidisciplinary professionals are currently working to harmonise their efforts in database curation and clinical interpretation; This project has many goals that mirror those of InSiGHT and much may be gained by exchanging lessons learned.Zilfalil Bin Alwi, HVP Board member presented HVP’s project-wide initiative the Global Globin 2020 Challenge which aims to promote skills and knowledge required for biomolecular diagnostics, variant curation and interpretation in low and middle income countries; haemoglobinopathies are the focus for this project because in many parts of the world, the application of genomic knowledge has not been leveraged effectively for better health care delivery utilising simple diagnosis to determine carrier status.Helen Robinson from HVP’s office gave a presentation on the work of HVP Country Nodes and how they could be used to broaden and deepen the work of InSiGHT through linking up with networks operating in many different regions of the world; increasingly HVP Country Nodes are becoming effective entry points for gaining access the genomic expertise in a country.Lastly, Jon Paul Plazzer, curator of the InSiGHT international variant database presented the new version of their database using LOVD3; this database is a model for other international variant databases; it has an active interpretation committee and receives several thousand visits every month thus demonstrating how the overall goals of HVP can be realised in a very concrete manner.

Meeting Report: Global Globin 2020 Challenge (GG2020) Conference

Moving Towards Zero ThalassaemiaKuala Lumpur17-18 July 2017

On 16th July 2017, the Global Globin 2020 Challenge (GG2020) annual meeting was held at the Impiana KLCC Hotel, Kuala Lumpur. The meeting was attended by fourteen GG2020 members from nine countries. Several issues were discussed during the meeting, including the development of the GG2020 Thalassaemia Kit. On the following day, the inaugural conference on GG2020, with the theme of “Moving Towards Zero Thalassaemia”, was held at the same venue. The conference was attended by a total of 108 participants, which included 23 international delegates from 10 countries comprising of 10 invited speakers. The opening ceremony on the 17thJuly 2017 began with welcoming remarks by the chairman of GG2020 Conference, Professor Zilfalil Alwi, followed by the chairman of the board of directors of Human Variome Project (HVP), Professor Sir John Burn and the Dean of School of Medical Sciences, Universiti Sains Malaysia, Professor Dr. Shaiful Bahari Ismail. The event was officiated by the deputy minister of Higher Education, Datuk Dr. Mary Yap Kain Ching. This was followed by a performance from MyThal Club Universiti Kebangsaan Malaysia Medical Centre (UKMMC), a club involving thalassaemia patients, their families and medical practitioners. The deputy minister of Higher Education then witnessed the exchange ceremony of Memorandum of Understanding between Universiti Sains Malaysia and Global Variome. Fifteen speakers from nine countries (Malaysia, Indonesia, Singapore, Thailand, India, Italy, Cyprus, Egypt and Pakistan) participated in this conference and shared their knowledge and experience on thalassaemia during the symposia. In general, the symposia covered topics ranging from the epidemiology of thalassaemia and cutting-edge topics such as stem cell therapy. A total of 42 ePosters were presented at the conference and three best posters were selected as the winners of the poster competition. Following the success of this inaugural conference, GG2020 hopes to make it as an annual event and see it becoming more successful in the future.